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- W2803449061 abstract "Spinocerebellar ataxia (SCA) is a neural disorder, which is caused by degenerative changes in the cerebellum. SCA is primarily characterized by gait ataxia, and additional clinical features include nystagmus, dysarthria, tremors and cerebellar atrophy. Forty-four hereditary SCAs have been identified to date, along with >35 SCA-associated genes. Despite the great diversity and distinct functionalities of the SCA-related genes, accumulating evidence supports the occurrence of a common pathophysiological event among several hereditary SCAs. Altered calcium (Ca2+) homeostasis in the Purkinje cells (PCs) of the cerebellum has been proposed as a possible pathological SCA trigger. In support of this, signaling events that are initiated from or lead to aberrant Ca2+ release from the type 1 inositol 1,4,5-trisphosphate receptor (IP3R1), which is highly expressed in cerebellar PCs, seem to be closely associated with the pathogenesis of several SCA types. In this review, we summarize the current research on pathological hereditary SCA events, which involve altered Ca2+ homeostasis in PCs, through IP3R1 signaling." @default.
- W2803449061 created "2018-06-01" @default.
- W2803449061 creator A5013469365 @default.
- W2803449061 creator A5035555934 @default.
- W2803449061 creator A5050104948 @default.
- W2803449061 date "2018-11-01" @default.
- W2803449061 modified "2023-09-24" @default.
- W2803449061 title "Ca2+ signaling and spinocerebellar ataxia" @default.
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